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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: kangas kontio t. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. Among authors: kangas kontio t. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila J, Sistonen J, Koskenvuo J, Alastalo TP. Scocchia A, et al. Among authors: kangas kontio t. Orphanet J Rare Dis. 2022 Feb 17;17(1):59. doi: 10.1186/s13023-022-02242-8. Orphanet J Rare Dis. 2022. PMID: 35177119 Free PMC article. No abstract available.
Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.
Pietrzak A, Badura-Stronka M, Kangas-Kontio T, Felczak P, Kozubski W, Latos-Bielenska A, Wierzba-Bobrowicz T, Florczak-Wyspianska J. Pietrzak A, et al. Among authors: kangas kontio t. Folia Neuropathol. 2019;57(3):285-294. doi: 10.5114/fn.2019.88459. Folia Neuropathol. 2019. PMID: 31588715 Free article.
Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level.
Paavola T, Kuusisto S, Jauhiainen M, Kakko S, Kangas-Kontio T, Metso J, Soininen P, Ala-Korpela M, Bloigu R, Hannuksela ML, Savolainen MJ, Salonurmi T. Paavola T, et al. Among authors: kangas kontio t. PLoS One. 2017 Feb 16;12(2):e0171993. doi: 10.1371/journal.pone.0171993. eCollection 2017. PLoS One. 2017. PMID: 28207870 Free PMC article.
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